MICA: MRC Centre for Neuromuscular Diseases

Abstract

Neuromuscular diseases (NMD) are an important group of disabling conditions affecting about 150,000 children and adults in the UK. They are caused by impairment of peripheral nerve and/or skeletal muscle function. Patients with these diseases develop muscle weakness and the severity can range from death in childhood or early adult life through to life long disability & dependence. Many patients also have heart and breathing muscle weakness which can add to disability and sometimes be fatal. These NMD conditions are commonly genetic and may run in families. They can also be acquired-for example through antibody attack as in "autoimmune" NMD or due to premature degeneration of muscle. Genetic examples include muscular dystrophy (~1 in 3500), Charcot Marie Tooth (CMT) neuropathy (~1 in 2500) and mitochondrial diseases (~1 in 5000). Acquired examples include chronic nerve inflammation (~1 in 1500) and a muscle degeneration/inflammation condition called inclusion body myositis (~1 in 10,000).

It is clear that NMD represent an important unmet health burden for the nation. However, relative to other neurological diseases such as epilepsy and multiple sclerosis, NMD have received less attention by government and other UK funding bodies. This is despite the excellent clinical infrastructure provided by several large clinical neuromuscular centres and the nationally commissioned NHS funding for care and diagnosis of some NMD lead by MRC Centre PI's (eg congenital muscular dystrophy, channelopathies and mitochondrial diseases). Furthermore, there has been significant progress in NMD discovery science, frequently lead by internationally high profile UK clinicians and scientists, but translation of this scientific discovery into clear benefit for UK patients has been disappointing so far.

We set up this MRC Centre to develop ways to bridge this "translational gap" between scientific discovery and patient benefit. We identified six main reasons (obstacles) why scientific discoveries were not clearly benefiting patients. We developed specific core activities to overcome each obstacle. Most notably we found there was a lack of UK trials culture for these conditions. That means that there were not many trials happening, doctors treating patients did not think there was much that could be done, and patients were not being given the opportunity to get involved in the research & trials that were happening. By setting up key core activites, in just four years, we have shifted the situation towards a trial and experimental medicine culture in the UK. Key activities we developed & which are now valuable UK available resources:

1. Stratified cohorts: collections of patients eligible for entry into trials and research2. Experimental trials support: a system of coordination and support to enable testing of new therapies in patients3. Neuromuscular human cell biobank: collecting muscle cells from patients to test new therapies4. MRI biomarker studies: using MRI scans to accurately measure muscles and assess if experimental treatments are working5. Training programmes to train more young scientists to undertake trials and develop new therapies6. Getting clinicians & animal scientists working closely together to work out which are the best cell & animal models on which to test new therapies

These core activities & our clinician scientist networks have resulted in a ten-fold increase in clinical trials & an even larger increase in patients entered into research cohorts. We now want to build on this success to embed a trials culture in UK practice.

In the UK there is no other centre that focuses on systematically linking discovery research to experimental medicine for NMD. This MRC Centre has lead the UK efforts in the last four years. The mission of a renewed MRC Centre is to achieve impact by translating science into experimental medicine & find treatments for adults & children with disabling/fatal neuromuscular diseases.

Planned Impact

There are particular challenges faced in the field of NMD. Challenges apply across stakeholder groups, and impact in all of these areas will be achieved through the outputs of the MRC Neuromuscular Centre. The affected patients themselves and the patient organisations who represent them face uncertain access to diagnosis and care, have limited access to experimental clinical trials and the majority are without effective or curative therapies. The clinical and academic groups who work with NMD require resources (such as the MRC Centre biobank) and know-how to underpin delivery of care and translational research. The policy makers who determine care delivery in this area need information on which to base health recommendations. Industry is a recent partner in rare disease research, with industrial partners frequently lacking knowledge in the disease areas and perceiving that the field lacks "trial readiness".By targeting the needs of these distinct stakeholder groups, the MRC Centre will provide outputs which will promote health and wellbeing in this patient group as well as promoting UK international competitiveness in this research field. Strong relationships are already in place to ensure that impact can be maximized. These include key roles for the Centre PIs in patient organisations and patient organization involvement in research design and oversight; leading roles of the Centre PIs in clinical and academic organizations; identified key areas of liaison with the policy makers involved in rare disease public health decision making and many links to industry (as detailed in Pathway to Impact). Patients and patient organisations will benefit from the experimental medicine studies and increased trial activity, which is aimed at defining better therapeutic strategies. This will lead to the development of better strategies for diagnosis and treatment of these currently incurable disorders with ultimate impact on health, quality of life and societal benefit via greater participation of this patient group in their communities. Underpinning the experimental medicine activity of the Centre will be the development of stratified cohorts and natural history studies (as highlighted in the new MRC Stratified Medicine call), enabling personalized medicine and a much larger group of patients to contribute to experimental clinical studies and access standardized procedures for care and assessment. The extension of these studies to new collaborating clinical colleagues across the country by MRC Centre-designed studies continuing to achieve NIHR portfolio adoption will provide tools/resources to greater numbers of clinicians involved in delivery of NMD care while the expertise generated by the MRC Centre will be available for the current planning process for specialized commissioning and rare disease public health policy development. On the academic side, the availability of the resources of the MRC Centre, including the biobanks, stratified cohorts and experimental medicine know how will increase the UK competitiveness for the development of research in this area. Policy makers will have access to clearer and more harmonized guidance on the management of these patient groups which can be applied to healthcare planning both in the UK in the context of specialized commissioning and in the EU through its rare disease strategy. Stratified cohorts, research know-how and a strategic programme of preclinical research provide a conducive environment for increased industry engagement with the presence of trial expertise, ready access to rare patients and experimental resources. In addition to interaction with industry for the initiation of industry sponsored studies, the research programmes undertaken in the Centre will identify targets for new areas of industrial exploitation.

Led to change in UK law to permit the mitochondrial donation technique to be offered to women suffering from mitochondrial disease to prevent transmission of the disease to their children.

Description

HFEA public consultation

Geographic Reach

Multiple continents/international

Policy Influence Type

Participation in a national consultation

Description

Human Fertilisation and Embryology Authority Draft Consultation

Geographic Reach

National

Policy Influence Type

Participation in a national consultation

Impact

"Following a public consultation by the HFEA, the UK Government have backed the pioneering IVF technique where faulty mitochondria are removed from an egg and replaced with mitochondria from a healthy donor to create the so-called '3-parent baby'.
http://www.newscientist.com/article/dn24230-warning-sounded-over-threeparent-ivf-safety.html
This has resulted in a huge amount of media coverage:
http://www.bbc.co.uk/news/health-23079276
Scientists comment on mitochondrial replacement and evolution, as published in Science*
Thursday 19th September 2013
Roundup comments
Professor Doug Turnbull, Professor of Neurology and Director of the Wellcome Trust Centre for
Mitochondrial Research, Newcastle University, said:
"Like every new medical technique, mitochondrial replacement will carry some risks when first used to
treat patients. We welcome discussion of these and agree that families affected by mitochondrial disease
should be fully appraised of the best science, so they can judge uncertain risk from the procedure against
2
the known high risk of having a child with a devastating disease. They will also consider the likely benefits
of mitochondrial replacement, which we are pleased that the authors of this commentary acknowledge.
"We do not agree that the concerns raised by the authors have been overlooked, or that they present a
compelling argument against clinical use. The experiments they cite have methodological weaknesses that
limit their relevance to humans, or have been superseded by more exhaustive research.
"The suggestion that proofofprinciple experiments in macaques involved closelyrelated animals is
especially misleading. Data in the original paper report that the macaques involved in this work were
unrelated, with substantial differences between the mitochondrial genomes of these animals.
"The authors nonetheless make sensible suggestions about managing risk by matching donated
mitochondria to the mother's as closely as possible. This will often be simple to achieve and is already in
our plans.
"It is critical that all risks, however small, are independently assessed and weighed against probable
benefits before mitochondrial replacement is approved for clinical use. The proper forum for this
assessment will be the expert HFEA licence committees that decide whether the techniques are safe
enough to be offered to patients, should Parliament agree that they are ethically acceptable."
Professor Robin LovellBadge, Head of Developmental Genetics, MRC National Institute for Medical
Research, said:
"The authors of the commentary highlight some interesting (although not novel) concepts to do with
evolution of mitochondrial DNA sequences and the obvious conflict present due to mitochondria being
inherited only from females, which means effectively that it is not in their "interest" to promote male
survival or fertility. However, this is almost certainly of little relevance within a freely interbreeding species
such as humans, and it is of even less relevance when talking about using "mitochondria replacement"
techniques to allow a few individual women to have healthy rather than desperately ill children."
* 'Mitochondrial replacement, evolution, and the clinic' by Klaus Reinhardt et al. will be published in
Science at 19:00 UK time on Thursday 19 September 2013, which is also when the embargo will lift.
All our previous output on this subject can be seen at this weblink:
http://www.sciencemediacentre.org/tag/mitochondrialdna/
http://www.bbc.co.uk/news/health24158049
New Scientist (quotes Doug Turnbull)
http://www.newscientist.com/article/dn24230warningsoundedoverthreeparentivfsafety.
html#.UjwUrz82nm4
Times (quotes Robin LovellBadge and Doug Turnbull)
http://www.thetimes.co.uk/tto/health/news/article3874038.ece
3
Science AAAS (quotes Robin LovellBadge)
http://news.sciencemag.org/biology/2013/09/newcontroversyoverexperimentalivfmethod
Clips
BBC News (quotes Robin LovellBadge and Doug Turnbull)
http://www.bbc.co.uk/news/health24158049
19 September 2013 Last updated at 20:10
Warning of three-person IVF 'risks'
By James Gallagher Health and science reporter, BBC News
http://theconversation.com/viewpoints-the-promise-and-perils-of-three-parent-ivf-18402."

Description

2CiC - Understanding the biology of ageing skeletal muscle in the oldest old

Prospective data collection for natural history study of hundreds of young adults with Duchenne Muscular Dystrophy; coordination of 18 centres.

Type Of Material

Biological samples

Year Produced

2010

Provided To Others?

Yes

Impact

Growth of national database.

Title

Analysis of cardiac function in mouse models

Description

Techniques to assess the cardiac phenotype of mouse models of muscular dystrophy in vivo. This includes analysis of the heart structure and function using MRI and conductance catheter studies to define the pressure-volume relationship of the cardiac cycle in live animals.

Type Of Material

Model of mechanisms or symptoms - mammalian in vivo

Year Produced

2011

Provided To Others?

Yes

Impact

Recent publications: Bauer et al. 2009, Bauer et al. 2010.

Title

Biobank myoblast muscle cell lines

Description

Myoblasts cell lines have been established on over 1000 patients as part of routine diagnostics in our centre. Patients are consented to provide this as a gift to research. Cell lines are used for basic research activity.

The Gfpt1 inducible knockout strain is derived from teh EUCOMM programme via the Neuromouse Consortium. The mouse strain has a Flp and Cre responsive targeted modification in exon 7 or the mouse Gfpt1 which can be used to generate either a LacZ expressing allele linked to the Gfpt1 promoter, or an Cre-inducible null allele for tissue-specific targeting.

Type Of Material

Model of mechanisms or symptoms - mammalian in vivo

Provided To Others?

No

Impact

The strain remains under development and there are no significant outputs yet.

Title

CMT DNA Bank

Description

DNA samples from Charcot Marie Tooth patients

Type Of Material

Biological samples

Provided To Others?

No

Impact

None as yet

Title

CMT International Database

Description

Produced a minimal dataset for a CMT international database.

Type Of Material

Biological samples

Provided To Others?

No

Impact

Published as workshop report in Neuromuscular Disorders PMID 20850975.

Methodology to assess the degree of hypertrophy induced by serum starvation. This is larger in dystrophic cardiomyocytes enabling selection for agents which may influence the cardiac phenotype in muscular dystrophy

Improving the diagnosis of mitochondrial disease in muscle biopsies using a quadruple immunofluorescence technique

Type Of Material

Biological samples

Year Produced

2015

Provided To Others?

Yes

Impact

This research method has been adopted in our diagnostic protocol.

Title

Inclusion Body Myositis cohort

Description

Natural history data from IBM patients.

Type Of Material

Biological samples

Year Produced

2010

Provided To Others?

Yes

Impact

None as yet.

Title

LGMD2B: C57BL/10.SJL-Dysf, B6..129-Dysftm1Kcam

Description

We hold two strains carrying mutations in the Dysferlin gene, one naturally occuring in the SJL/J strain which has been bred onto C57BL/10, and the other a targeted mutation. The mutations both result in a very mild myopathy with late onset, compatible with the relatively mild phenotype of LGMD2B.

Type Of Material

Model of mechanisms or symptoms - mammalian in vivo

Year Produced

2013

Provided To Others?

Yes

Impact

Understanding the regenerative defect in dysferlinopathy.

Title

LGMD2F: Sgcd-/-

Description

The Sgcd-/- strain has an engineered null mutation in the delta sarcoglycan gene. In common with the human equivalent found in LGMD2F, the Sgcd-/- strain developes a dilated cardiomyopathy as well as myopathy. As such, this strain serves as a useful model for dilated cardiomyopathy as well as LGMD2F.

Mangangese is a contrast agent in MRI which mimics calcium, and so shows increased contrast in muscular dystrophy where calcium is aberrantly elevated.

Type Of Material

Physiological assessment or outcome measure

Provided To Others?

No

Impact

Not yet.

Title

Mitochondrial cohort

Description

Natural history data from mitochondrial patients

Type Of Material

Biological samples

Year Produced

2009

Provided To Others?

Yes

Impact

None as yet

Title

Mutant Mouse

Description

New mouse models with mutations in genes known to be causative for neurogeneration in humans.

Type Of Material

Model of mechanisms or symptoms - mammalian in vivo

Year Produced

2010

Provided To Others?

Yes

Impact

Presentations at meetings. Papers to follow.

Title

North-Star

Description

Prospective data collection of natural history study of hundreds of children with Duchenne Muscular Dystrophy.

Type Of Material

Biological samples

Year Produced

2008

Provided To Others?

Yes

Impact

Ongoing collection of data; growth of database.

Title

QTRAC

Description

QTRAC is the patented technique developed by Professor Hugh Bostock in the Centre for Neuromuscular disease which allows reliable clinical evaluation of peripheral nerve excitability - so called nerve excitability testing. This has been adopted in a number of clinical neurophysiology units worldwide. We have published on this work eg Tomlinson et al Nerve excitability testing in episodic ataxia Brain in press PMID 21106501.

The mdx model is the standard mammalian model for DMD with a nonsense mutation in exon 23 of the mouse dmd gene. Despite genetic homology with the human disease, mdx has a relatively mild myopathy. The human CMAH gene carries an inactivating deletion and humans do not sxpress this enzyme responsible for a specific sialytion of proteins and so human tissues do not express N-glycoylneuraminic acid (Neu5Gc), and abundant sialic acid derivative in non-human tissues. Expression of CMAH, and hence Neu5Gc, may be associated with protection from specific pathologies in non-human mammals, and the Cmah-/- mdx strain has a more severe, earlier onset myopathy than mdx.

Type Of Material

Model of mechanisms or symptoms - mammalian in vivo

Provided To Others?

No

Impact

Paper published PMID 20668298
Testing and validation of AON therapies in the mouse, especially with regard to improvements in cardiac function after treatment with PPMOs.

Once "hits" are confirmed in their models, we will will investigate these further for efficacy in patient cell lines.

Collaborator Contribution

Bactevo are a SME who are currently screening their library of natural compounds to look for novel molecules that increase mitochondrial mass. Once "hits" are confirmed in their models, the MRG will investigate these further for efficacy in patient cell lines.

We have provided advice on the project from the outset as well as some material support in the analysis phase.

Collaborator Contribution

Prof. Eckard Wolf has developed the pig breeding project and maintains the existing stocks. The collaboration is now moving forward to defining the next series of experiments to utilise the pig model.

Impact

Publication (Pubmed ID: 23784375)

Start Year

2007

Description

Edison and Mitochondrial Disease

Organisation

Edison Pharmaceuticals

Country

United States

Sector

Private

PI Contribution

Running planned clinical drug trial for mitochondrial disease. Supervision of a Clinical Research Fellow for one year.

Impact

None as yet.

Start Year

2010

Description

Establishing a Biobank for the MRC Centre for Neuromuscular Diseases

Organisation

University College London

Department

Institute of Neurology

Country

United Kingdom

Sector

Academic/University

PI Contribution

Provided facilities and staff support in form of Biobank Technician.

Collaborator Contribution

Provided infrastructure and guidance to establish Biobank for neuromuscular disease. Facilitated relocation of the Dubowitz Neuromuscular Centre to Queen Square.

Impact

The Dubowitz Neuromuscular Centre is now fully functional and CPA accredited. It is a valuable resource and a centre of excellence, proving a unique research infrastructure to the MRC Centre for Neuromuscular Diseases.

Start Year

2008

Description

Evaluation of Biomarkers in DMD

Organisation

Pfizer Ltd

Department

Orphan & Genetic Diseases Research Unit Pfizer

Country

United Kingdom

Sector

Private

PI Contribution

We have provided mouse urine, tissue and myoblasts.

Collaborator Contribution

Pfizer will shortly analyse the samples derived from our models for specific biomarkers.

Management of MRI Physicist working on muscle MRI project for two years.

Impact

None as yet.

Start Year

2009

Description

IBM-Net

Organisation

Muscular Dystrophy UK

Country

United Kingdom

Sector

Charity/Non Profit

PI Contribution

Addition of patient data to web-based cohort of IBM patients.

Collaborator Contribution

Addition of patient data to web-based cohort of IBM patients.Addition of patient data to web-based cohort of IBM patients. Addition of patient data to web-based cohort of IBM patients. Addition of patient data to web-based cohort of IBM patients.

Impact

Development of IBM-Net database.

Start Year

2008

Description

IBM-Net

Organisation

Newcastle upon Tyne Hospitals NHS Foundation Trust

Department

Neurology Service

Country

United Kingdom

Sector

Hospitals

PI Contribution

Addition of patient data to web-based cohort of IBM patients.

Collaborator Contribution

Addition of patient data to web-based cohort of IBM patients.Addition of patient data to web-based cohort of IBM patients. Addition of patient data to web-based cohort of IBM patients. Addition of patient data to web-based cohort of IBM patients.

Impact

Development of IBM-Net database.

Start Year

2008

Description

IBM-Net

Organisation

Salford Royal NHS Foundation Trust

Department

Department of Neurology

Country

United Kingdom

Sector

Hospitals

PI Contribution

Addition of patient data to web-based cohort of IBM patients.

Collaborator Contribution

Addition of patient data to web-based cohort of IBM patients.Addition of patient data to web-based cohort of IBM patients. Addition of patient data to web-based cohort of IBM patients. Addition of patient data to web-based cohort of IBM patients.

Impact

Development of IBM-Net database.

Start Year

2008

Description

IBM-Net

Organisation

University Hospital Southampton NHS Foundation Trust

Department

Department of Neurology

Country

United Kingdom

Sector

Hospitals

PI Contribution

Addition of patient data to web-based cohort of IBM patients.

Collaborator Contribution

Addition of patient data to web-based cohort of IBM patients.Addition of patient data to web-based cohort of IBM patients. Addition of patient data to web-based cohort of IBM patients. Addition of patient data to web-based cohort of IBM patients.

Impact

Development of IBM-Net database.

Start Year

2008

Description

IBM-Net

Organisation

University of Oxford

Department

Nuffield Department of Clinical Neurosciences

Country

United Kingdom

Sector

Academic/University

PI Contribution

Addition of patient data to web-based cohort of IBM patients.

Collaborator Contribution

Addition of patient data to web-based cohort of IBM patients.Addition of patient data to web-based cohort of IBM patients. Addition of patient data to web-based cohort of IBM patients. Addition of patient data to web-based cohort of IBM patients.

Impact

Development of IBM-Net database.

Start Year

2008

Description

Identification and characterisation of CMS genes

Organisation

ETH Zurich

Country

Switzerland

Sector

Academic/University

PI Contribution

Patient material, consumables and personnel for gene analysis.

Collaborator Contribution

Large-scale mapping and sequencing resources.Patient material.

Impact

Clinical paper submitted. Scientific paper in preparation.

Start Year

2007

Description

Identification and characterisation of CMS genes

Organisation

University of Otago

Department

Department of Medicine

Country

New Zealand

Sector

Academic/University

PI Contribution

Patient material, consumables and personnel for gene analysis.

Collaborator Contribution

Large-scale mapping and sequencing resources.Patient material.

Impact

Clinical paper submitted. Scientific paper in preparation.

Start Year

2007

Description

Identifying causative genes and pathomechanisms in CMS

Organisation

Aarhus University

Department

Institute of Human Genetics

Country

Denmark

Sector

Academic/University

PI Contribution

We have provided samples, expertise and consumables.

Collaborator Contribution

Information regarding gene function in CMS has been made available to the Newcastle group. Collaborators provided samples, expertise and consumables.Information regarding gene function in CMS has been made available to the Newcastle group. Collaborators provided samples, expertise and consumables.

Information regarding gene function in CMS has been made available to the Newcastle group. Collaborators provided samples, expertise and consumables.Information regarding gene function in CMS has been made available to the Newcastle group. Collaborators provided samples, expertise and consumables.

By extending our collaborative links to a group working on iPSC we have gained valuable technological insights, unique experimental materials and access to a wider collaborative network.
We have provided fibroblasts from dystrophic patients and technical support and expertise in analysing derived cardiomyocytes.

Collaborator Contribution

The Nottingham group have provided us with iPSC cells and have trained our technician in their generation and maintenance.

Prospective data collection for natural history study of hundreds of children with Duchenne Muscular Dystrophy; coordination of 18 centres.

Collaborator Contribution

Administrative support.

Impact

Ongoing growth of database.

Start Year

2008

Description

Notch and c-Jun signalling in Schwann cells

Organisation

San Raffaele Hospital

Department

San Raffaele Scientific Institute (SRSI)

Country

Italy

Sector

Academic/University

PI Contribution

We mated the Po-CRE mice with other mice and analysed the result.

Collaborator Contribution

The collaboration enabled us to generate mice without RBPj and c-June in Schwann cells. The collaborator provided us with Po-CRE mice.

Impact

Two papers: PMID 19525946 and PMID 18490512.

Start Year

2006

Description

Notch signalling in Schwann Cells

Organisation

Erasmus University Medical Center

Country

Netherlands

Sector

Academic/University

PI Contribution

We mated the DhhCRE mice with other mice, and analysed the result.

Collaborator Contribution

The collaboration enabled us to generate mice without RBPj in Schwann cells. The collaborator provided us with DhhCRE mice.

Impact

One paper: PMID 19525946

Start Year

2006

Description

PTRF-cavin in muscle disease

Organisation

Free University of Berlin

Department

Medical School Berlin

Country

Germany

Sector

Academic/University

PI Contribution

Patient material.

Collaborator Contribution

PTFR-cavin resources.

Impact

PMID 20300641.

Start Year

2007

Description

Paediatric mitochondrial disease

Organisation

University Duisburg-Essen

Country

Germany

Sector

Academic/University

PI Contribution

Analysis of samples to identify the cause of combined respiratory chain deficiency.

Collaborator Contribution

Supply of samples from paediatric patients with mitochondrial disease.

Impact

Two papers:
PMID 23430795
PMID 23814040

Start Year

2012

Description

Preclinical testing in SOD1 mice

Organisation

Janus Developments

Country

Spain

Sector

Private

PI Contribution

Undertaking a preclinical trial of a compound in a mouse model of ALS.

Collaborator Contribution

Development strategy.

Impact

None yet.

Start Year

2012

Description

RDCRC Inherited Neuropathies Consortium

Organisation

National Institutes of Health (NIH)

Country

United States

Sector

Public

PI Contribution

Provision of patient data, Fellowship training scheme. PI is Co-Director of the consortium.

Collaborator Contribution

International consortium for research into inherited neuropathies.

Impact

Two clinical research fellows in the UK have completed the training scheme. One clinical research fellow is currently on the scheme. 21 research fellows funded by non-NIHR sources have completed/are undergoing the programme.

The collaboration has enabled us to study regeneration in the facial nerve. The collaborator provided knowledge of the facial nerve.

Impact

No papers to date.

Start Year

2008

Description

Schwann cell deymelination

Organisation

Cancer Research UK

Department

Cancer Research UK London Research Institute (LRI)

Country

United Kingdom

Sector

Academic/University

PI Contribution

Our lab bred the mice and and analysed the progeny.

Collaborator Contribution

The collaboration enabled us to study c-Jun function in vivo. The collaborator provided us with GM mice.

Impact

Paper PMID 18490512.

Start Year

2008

Description

Schwann cell precursors and regeneration

Organisation

King's College London

Department

School of Biomedical Sciences KCL

Country

United Kingdom

Sector

Academic/University

PI Contribution

We provided Schwann cell precursors and analysed the results.

Collaborator Contribution

The collaborator has enabled us to study regeneration in the spinal cord. The collaborator carried out operations on the spinal cord.

Impact

One paper: PMID 18484102

Start Year

2007

Description

Smart-Net

Organisation

Muscular Dystrophy UK

Country

United Kingdom

Sector

Charity/Non Profit

PI Contribution

Prospective data collection for natural history study of hundreds of children with spinal muscular atrophy; coordination of 18 centres.

Collaborator Contribution

Administrative support.

Impact

Continuing expansion of database.

Start Year

2008

Description

Stem cell function in the dystroglycanopathies

Organisation

Royal Veterinary College (RVC)

Department

Veterinary Basic Sciences

Country

United Kingdom

Sector

Academic/University

PI Contribution

Skills and knowledge imparted from team at Dubowitz Neuromuscular Centre, UCL Institute of Child Health.

Collaborator Contribution

Skills and knowledge.

Impact

None as yet

Start Year

2008

Description

Studying a novel gene for motor neuron degeneration

Organisation

MRC Harwell

Department

MRC Mammalian Genetics Unit

Country

United Kingdom

Sector

Academic/University

PI Contribution

Providing new models for analysis of neurodegeneration.

Collaborator Contribution

The partnership has extended the research into new areas.

Impact

Awarded a grant for £110,000 from the Motor Neuron Diseases Association for a PhD student.

Start Year

2009

Description

Studying new mouse models of ALS

Organisation

University College London

Department

Institute of Neurology

Country

United Kingdom

Sector

Academic/University

PI Contribution

Clinical expertise.

Collaborator Contribution

Phenotyping of mouse models of ALS.

Impact

One clinical research fellow.
Multidisciplinary - genetics and physiology.

Start Year

2007

Description

TREAT-NMD Alliance

Organisation

European Commission

Country

European Union (EU)

Sector

Public

PI Contribution

Following the success of the TREAT-NMD network of excellence, the TREAT-NMD Alliance has been formed as the continuing, sustainable network supporting translational research in neuromuscular diseases internationally. We have been tasked with coordination of the network.

The present invention provides a method for determining all the molecular causes of Inherited Neuromuscular Disorders comprising determining a number of copy number variation(s), and/or determining a number of point mutation(s) on a physiological sample comprising a genome of a subject.

IP Reference

WO2014037526

Protection

Patent granted

Year Protection Granted

2015

Licensed

No

Impact

N/A

Title

COL6 intron 11 mutation splicing correction

Description

Identification of effective sequences to induce pseudoexon exclusion from pre-MRNA of COL6A1

IP Reference

17824010-0 111

Protection

Patent granted

Year Protection Granted

2019

Licensed

No

Impact

We are currently engaging 2 industrial partners to take this forward for future clinical trials

Title

A Phase 3 Randomized, Double-Blind, Placebo-Controlled Trial to Evaluate the Efficacy and Safety of Daily Subcutaneous Injections of Elamipretide in Subjects with Primary Mitochondrial Myopathy Followed by an Open-Label Treatment Extension

Description

SPIMM-301 has two parts. In part 1, which will have a duration of 24 weeks, participants will be randomised to elamipretide or placebo (double blinded). Part 2 is an open-label extension- with a duration of 144 weeks.
Funding for this trial is provided by Stealth BioTherapeutics Inc., the trial Sponsor.

Type

Therapeutic Intervention - Drug

Current Stage Of Development

Late clinical evaluation

Year Development Stage Completed

2018

Development Status

Under active development/distribution

Impact

The SPIMM 301 study has the potential to result in a treatment for primary mitochondrial myopathy, at present there are no available treatments for this condition.

Title

A phase IIb/III of Arimoclomol in IBM

Description

Follow up of the phase IIa RCT study concluded in 2012, this clinical trial is in set-up phase and is funded by FDA/Orphazyme (tbc).

Retrospective cohort study including patients from the National Hospital for Neurology, London UK, and the University Hospital of Rennes, France. Open to recruitment. Funded by UCL.

Type

Management of Diseases and Conditions

Current Stage Of Development

Initial development

Year Development Stage Completed

2013

Development Status

Under active development/distribution

Impact

Objective is to determine biological factors in blood and CSF that could be predictive of severity of neuropathies associated with IgM anti-MAG antibodies. No impacts as yet.

Title

AFM Natural History Study

Description

Document with quantified measurements the natural history of Duchenne Muscular Dystrophy. Open to recruitment. Funded by AFM.

Type

Management of Diseases and Conditions

Current Stage Of Development

Initial development

Year Development Stage Completed

2013

Development Status

Under active development/distribution

Impact

None as yet.

Title

Acipimox in Mitochondrial Myopathy (AIMM) Study

Description

The aim of the AIMM study is to repurpose the drug acipimox for use in a new indication, namely treatment of patients with mitochondrial myopathy.
Acipimox is a niacin derivative and nicotinic acid analogue with activity as a hypolipidaemic agent- it was originally developed and licensed to treat high cholesterol and improve diabetic control. Acipimox has been shown to boost ATP levels within muscle cells and it is this function that we are looking use in order to relieve the debilitating muscle symptoms experienced by some patients with mitochondrial disease and muscle involvement.
The AIMM trial is funded via the MRC Biomedical Catalyst Development Pathway Funding Scheme (DPFS).

Type

Therapeutic Intervention - Drug

Current Stage Of Development

Early clinical assessment

Year Development Stage Completed

2017

Development Status

Under active development/distribution

Impact

None yet-still in development however it will target a rare disease or difficult to reach population. Success of this study will potentially impact most on patients with mitochondrial disease, as it may provide a novel therapeutic strategy, in a condition with no currently licensed treatments. If Acipimox demonstrates significant efficacy in the two forms of mitochondrial disease included in this study design, the compound is likely to be beneficial for all forms of mitochondrial disease with significant muscle involvement. Randomized clinical trials and evidence-based studies on the efficacy of treatments in patients with mitochondrial disease is still lacking. In the clinical field of mitochondrial disease, this work will advance future trial design by linking several functional outcome measures with optimized clinical assessments.
We would also propose extrapolating the adaptive design methodology into other rare diseases where obtaining the desired patient recruitment and retention proves to be the primary barrier to clinical advancements. The trial will also allow for further refinement of a number of functional outcome measures.

Title

Aerobic training in CMT and IBM

Description

Exercise trial open to recruitment.

Type

Therapeutic Intervention - Physical

Current Stage Of Development

Initial development

Year Development Stage Completed

2014

Development Status

Under active development/distribution

Impact

None as yet.

Title

Arimoclomol for sporadic inclusion body myositis

Description

Placebo controlled pilot study assessing safety, efficacy and tolerability of Arimoclomol in adult patients with sIBM. Funded by Arthritis Research UK and the Myositis Support Group.

Type

Therapeutic Intervention - Drug

Current Stage Of Development

Initial development

Year Development Stage Completed

2013

Development Status

Under active development/distribution

Clinical Trial?

Yes

Impact

Manuscript in preparation for publication. Follow up trial in set-up phase.

Title

Bumetanide in HypoPP

Description

Clinical trial in set-up phase, funded by MRC Centre grant.

Type

Therapeutic Intervention - Drug

Current Stage Of Development

Initial development

Year Development Stage Completed

2014

Development Status

Under active development/distribution

Impact

None as yet.

Title

CMT International Database

Description

Translational research in Europe for the assessment and treatment of neuromuscular diseases (TREAT-NMD) international database in set-up phase. Funded by National Institutes of Health (NIH - USA).

Type

Management of Diseases and Conditions

Current Stage Of Development

Initial development

Year Development Stage Completed

2013

Development Status

Under active development/distribution

Impact

None as yet - set up phase.

Title

CMT: A Natural History Study

Description

Charcot-Marie-Tooth Disease and related disorders: a natural history study. Open to recruitment. Funded by National Institutes of Health (NIH - USA).

Type

Management of Diseases and Conditions

Current Stage Of Development

Initial development

Year Development Stage Completed

2014

Development Status

Under active development/distribution

Impact

None as yet.

Title

DMD114349

Description

An open-label extension study of the long-term safety, tolerability and efficacy of GSK2402968 in subjects with Duchenne Muscular Dystrophy)

Type

Therapeutic Intervention - Drug

Current Stage Of Development

Late clinical evaluation

Year Development Stage Completed

2012

Development Status

On hold

Clinical Trial?

Yes

Impact

The study is now being evaluated for definition of best treatment modality in DMD

Title

Development of Registries and Biobanks

Description

Development of multiple patient registries as part of the wider networking effort (Myotonic dystrophy, FSHD, LGMD2I, etc.). This is also integrated with biobanking and clinical research activities.

clinical safety and biochemical efficacy of intravenously administered Eteplirsen in 19 DMD patients. The study drug was well tolerated with no drug related serious adverse events. The study drug is being further developed in the USA and funded by the drug company Sarepta Therapeutics.

Type

Therapeutic Intervention - Drug

Current Stage Of Development

Early clinical assessment

Year Development Stage Completed

2011

Development Status

Closed

Clinical Trial?

Yes

Impact

The study drug is being further developed in clinical trials in the USA at higher doses, to improve impact. Data is being anaysed for submission to FDA.

A multicentre collaborative study on the clinical features, expression profiling, and quality of life of infantile onset fascioscapulohumeral muscular dystrophy. Set-up phase. Funded by NIH (USA).

Type

Management of Diseases and Conditions

Current Stage Of Development

Initial development

Year Development Stage Completed

2013

Development Status

Under active development/distribution

Impact

None as yet.

Title

FSHD Registry

Description

UK FSHD Patient Registry is a national registry for all people affected by facioscapulohumeral dystrophy living in England, Scotland, Wales and Northern Ireland, and was launched in May 2013. Open to recruitment. Funded by the Muscular Dystrophy Campaign and supported by the TREAT-NMD Alliance.

Type

Management of Diseases and Conditions

Current Stage Of Development

Initial development

Year Development Stage Completed

2013

Development Status

Under active development/distribution

Impact

None as yet.

Title

GNE myopathy-disease monitoring programme (GNE-DMP)

Description

A registry and prospective observational natural history study to assess HIBM disease. Open to recruitment. Funded by Ultragenyx Pharmaceutical Inc. (USA).

International registry for all persons affected by conditions caused by a mutation in the Fukutin-Related Protein (FKRP) gene, namely Limb Girdle Muscular Dystrophy type 2I. Open to recruitment. Funded by the LGMD2I Research Fund.

DMD Heart Protection Study: A double-blind randomised multi-centre, placebo-controlled trial of combined ACE-inhibitor and beta-blocker therapy in preventing the development of cardiomyopathy in genetically characterised males with DMD without echo-detectable left ventricular dysfunction

Type

Therapeutic Intervention - Drug

Current Stage Of Development

Wide-scale adoption

Development Status

Under active development/distribution

Clinical Trial?

Yes

Impact

This study is a double-blind, randomised, multi-centre, placebo-controlled trial. We wish to determine the effect of combined ACE-inhibitor (Perindopril) and beta-blocker (Bisoprolol) therapy in preventing the development of cardiomyopathy in 140 genetically characterised males with Duchenne Muscular Dystrophy (DMD) without echo-detectable left ventricular dysfunction, at five sites across the UK.

A registry and prospective natural history study to assess HIBM disease. Currently recruiting. Funded by Ultragenyx.

Type

Management of Diseases and Conditions

Current Stage Of Development

Initial development

Year Development Stage Completed

2013

Development Status

Under active development/distribution

Impact

None as yet.

Title

Identification of disease susceptibility genes associated with development and clinical characteristics of primary inflammatory muscle diseases, PM, DM and IBM

Description

Ongoing recruitment. Funded by ARC.

Type

Management of Diseases and Conditions

Current Stage Of Development

Initial development

Year Development Stage Completed

2013

Development Status

Under active development/distribution

Impact

None as yet.

Title

International GBS Outcome Study - IGOS

Description

Aim is to obtain a detailed and standardised database of clinical features, treatment and diagnostic electrophysiology, and collect a biobank with serum samples and DNA. Open to recruitment. Funded by Wellcome Trust/GBS Support Group.

Type

Management of Diseases and Conditions

Current Stage Of Development

Initial development

Year Development Stage Completed

2013

Development Status

Under active development/distribution

Impact

None as yet.

Title

Investigation of Human Neurological Ion Channel Disorders

Description

Consolidate and expand on previous work by collating clinical data and continuing to sequence candidate genes in patients suspected to have ion channel disorders. Open to recruitment. Funded by UCLH.

Type

Management of Diseases and Conditions

Current Stage Of Development

Initial development

Year Development Stage Completed

2013

Development Status

Under active development/distribution

Impact

None as yet.

Title

Kennedy's Disease - Study and Register

Description

National register of patients with Kennedy's Disease (spinal and bulbar muscular atrophy). Open to recruitment. Funded by UCLH.

Type

Management of Diseases and Conditions

Current Stage Of Development

Initial development

Year Development Stage Completed

2014

Development Status

Under active development/distribution

Impact

None as yet.

Title

LEMS Disease Registry

Description

Voluntary, multi-centre, multinational, observational programme for patients with LEMS disease and is intended to track the routine clinical outcomes of patients with LEMS over time. Funded by BioMarin Europe Ltd.

The natural history of LGMD2B has not been systematically studied. By understanding the disease course in a large, controlled population drawn from an international population we aim to provide a platform for testing of therapies.

Title

Nat-His-MTM

Description

Prospective longitudinal study of the natural history and functional status of patients with MyoTubular Myopathy, in set-up phase. Funded by Institute of Myology.

Type

Management of Diseases and Conditions

Current Stage Of Development

Initial development

Year Development Stage Completed

2013

Development Status

Under active development/distribution

Impact

None as yet.

Title

Natural history study of hereditary sensory neuropathy type 1

Description

Natural history study of Hereditary Sensory Neuropathy type 1 secondary to SPTLC1 and SPTLC2 mutations. Open to recruitment. Funded by MRC Centre grant.

This is a new morpholino antisense oligomer to induce exon skipping of exon 53 in Duchenne muscular dystrophy boys
http://www.skip-nmd.eu/
First part was a phase I dose escalation study completed in January 2016. Now all children are in the phase II maintenance

Type

Therapeutic Intervention - Cellular and gene therapies

Current Stage Of Development

Early clinical assessment

Year Development Stage Completed

2017

Development Status

Under active development/distribution

Clinical Trial?

Yes

Impact

We hope this new morpholino antisense oligomer will obtain accelerated approval, in case we reach the primary endpoints

Establish the first national clinical and research network names SMA REACH UK (SMA Research And Clinical Hub UK), to establish a national agreement on clinical and physiotherapy assessment and standards of care. Funded by SMA Trust.

Type

Management of Diseases and Conditions

Current Stage Of Development

Initial development

Year Development Stage Completed

2013

Development Status

Under active development/distribution

Impact

None as yet.

Title

SMA Registry

Description

Part of the TREAT-NMD Global SMA Registry, the UK SMA (Spinal Muscular Atrophy) Registry is for all aptients living in the UK and Ireland who are affected by all types of SMA. Ongoing recruitment. Funded by The Jennifer Trust for Spinal Muscular Atrophy.

Natural history study to monitor the clinical and radiological course of upper limb muscle impairment in patients with DMD, potentially treatable with AAV-mediated exon 53 skipping. Open to recruitment. Funded by Genethon.

Type

Management of Diseases and Conditions

Current Stage Of Development

Initial development

Year Development Stage Completed

2013

Development Status

Under active development/distribution

Impact

None as yet.

Title

TAPP

Description

Clinical trial in set-up phase, funded by National Institutes of Health (NIH- USA).

Type

Therapeutic Intervention - Drug

Current Stage Of Development

Initial development

Year Development Stage Completed

2014

Development Status

Under active development/distribution

Impact

None yet.

Title

The PATH Study

Description

Closed to recruitment, results under evaluation.

Type

Therapeutic Intervention - Drug

Year Development Stage Completed

2014

Development Status

Closed

Impact

None as yet.

Title

UK Myotonic Dystrophy Patient Registry

Description

UK Myotonic Dystrophy Patient Registry is an online patient driven resource launched in May 2012. open to recruitment. Funded by the Myotonic Dystrophy Support Group.

Type

Management of Diseases and Conditions

Current Stage Of Development

Initial development

Year Development Stage Completed

2012

Development Status

Under active development/distribution

Impact

Primary aim of the registry is to facilitate and accelerate the planning, design and recruitment of clinical research.

Title

Using Next Generation Sequencing to Unravel the Pathogenesis of Sporadic Inclusion Body Myositis

Description

The international IBM Consortium Genetic Study. Open to recruitment (ongoing). Funded by the Medical Research Council.

Type

Management of Diseases and Conditions

Current Stage Of Development

Initial development

Year Development Stage Completed

2014

Development Status

Under active development/distribution

Impact

None as yet. We expect to identify a number of IBM rare variants that cluster in disease associated genes.

CBAV Director led a public discussion, chaired by the Head of Communications at the Wellcome Trust, about the new IVF technique to prevent mitochondrial disease. The technique has generated huge international media interest.

UK Government have approved publication of revised draft regulations allowing this research to go ahead.

Year(s) Of Engagement Activity

2013

Description

British Science Festival 2013

Form Of Engagement Activity

Participation in an open day or visit at my research institution

Part Of Official Scheme?

Yes

Type Of Presentation

Keynote/Invited Speaker

Geographic Reach

National

Primary Audience

Public/other audiences

Results and Impact

A series of lab tours were arranged and the public introduced to our working environment

The centre for neuromuscular diseases held the first CMT patient education and information day in 2010. CMT patients and their families came from all over the UK to hear about different aspects of CMT including diagnosis, treatment and care. Members of the entire multidisciplinary CMT team at Queen Square were on hand to answer questions and explain the diagnostic process, care and treatment through practical demonstrations and posters. Patients also had the important opportunity to meet other families who were affected by CMT.

.

Year(s) Of Engagement Activity

2010,2011,2012

Description

CMT Patient Day

Form Of Engagement Activity

Participation in an activity, workshop or similar

Part Of Official Scheme?

No

Geographic Reach

National

Primary Audience

Public/other audiences

Results and Impact

A day of talks for the CMT patient population given by a multidisciplinary team with opportunity for questions and discussion.

Request for this annual patient day to continue in 2015.

Year(s) Of Engagement Activity

2014

Description

CMT UK AGM

Form Of Engagement Activity

Participation in an activity, workshop or similar

Part Of Official Scheme?

No

Geographic Reach

National

Primary Audience

Participants in your research and patient groups

Results and Impact

PI, the President of CMT UK was an invited speaker at the AGM, and facilitated a question and answer session with CMT patients attending the meeting.

As a result of this meeting, CMT UK made a contribution towards MRI scanning at the MRC Centre for Neuromuscular Diseases.

The centre for neuromuscular diseases held the first channelopathy patient education and information day on 23rd January 2010 at Queen Square. Channelopathy patients and their families came from across the UK to hear about different aspects of channelopathies including diagnosis, treatment and care. Members of the entire multidisciplinary channelopathy team at Queen Square were on hand to answer questions and explain the diagnostic process, care and treatment through practical demonstrations and posters. Patients also had the important opportunity to meet other families who were affected by channelopathies.

A second patient day is planned for 2011.

Year(s) Of Engagement Activity

2010,2011,2012

Description

DMT - Invited speaker at MEET event

Form Of Engagement Activity

A talk or presentation

Part Of Official Scheme?

No

Geographic Reach

International

Primary Audience

Postgraduate students

Results and Impact

Invited speaker at the final dissemination event for the Mitochondrial European Educational Training group.

Year(s) Of Engagement Activity

2016

Description

DMT Christmas Lecture

Form Of Engagement Activity

A talk or presentation

Part Of Official Scheme?

No

Geographic Reach

Local

Primary Audience

Schools

Results and Impact

The Children's Christmas Lecture is an annual event sponsored by Newcastle University with high profile speakers. The Centre Director was invited to present the lecture in 2016. Over 300 school children and around 50 representatives of the 'Voice North' panel were invited to attend. This was an interactive lecture about mitochondrial disease, how it affects people and what we hope to achieve with our research.

Year(s) Of Engagement Activity

2016

Description

DMT Invited speaker at UCL ION meeting

Form Of Engagement Activity

A talk or presentation

Part Of Official Scheme?

No

Geographic Reach

National

Primary Audience

Professional Practitioners

Results and Impact

Invited speaker at the annual Institute of Neuroscience conference, UCL

22nd - 25th April - lecture on TIMP and MMP9 and miRNA and dystrophin, How AON entre muscle cells, Differences between dynamic in cardiac and skeletal muscle, Novel PPMO and Tryciclo DNA

Year(s) Of Engagement Activity

2015

Description

Dissemination articles for advocacy groups magazines

Form Of Engagement Activity

A magazine, newsletter or online publication

Part Of Official Scheme?

No

Geographic Reach

National

Primary Audience

Supporters

Results and Impact

Articles and interviews published in Action Duchenne and in Muscular Dystrophy Campaign UK Charities. The same for Muscular Dystrophy Association USA, and for MDA Australia, and for Association Francaise Myopathies.

Patient queries, request of more infromation/ clarification. Contact with industry

Year(s) Of Engagement Activity

2008,2009,2010,2011,2012

Description

EMEA - TREAT-NMD meeting

Form Of Engagement Activity

Participation in an activity, workshop or similar

Part Of Official Scheme?

No

Geographic Reach

International

Primary Audience

Other audiences

Results and Impact

Meeting at EMEA organised by me (but hosted at EMEA) to discuss personalised medicine for DMD

10/12 trial subjects attended the meeting. Preliminary trial results were reported. Feedback from patients was extremely positive. Future research directions were discussed. A representative of the "Myositis Support Group" also attended the meeting.

Further engagement of patients on the IBM research conducted at the MRC Centre for Neuromuscular Diseases.

Year(s) Of Engagement Activity

2012

Description

Invited as speaker for ABN and PNS of whcih I am president elect and president

Form Of Engagement Activity

A talk or presentation

Part Of Official Scheme?

No

Geographic Reach

International

Primary Audience

Professional Practitioners

Results and Impact

Regularly invited as a speaker to international conferences to talk on CMT. ICNMD, PNS, ABN in Perth, Chile etc

Year(s) Of Engagement Activity

2014,2015

Description

IvIg Patient Information Day

Form Of Engagement Activity

Participation in an open day or visit at my research institution

Part Of Official Scheme?

No

Geographic Reach

National

Primary Audience

Participants in your research and patient groups

Results and Impact

The centre for neuromuscular diseases held the first IvIg patient information day on 29th March 2010 at Queen Square. Patients receiving IvIg and their families came from all over the UK to hear about different aspects of the treatment. Members of the multidisciplinary team at Queen Square were on hand to answer questions and explain the treatment and process. Patients also had the important opportunity to meet other families who were undergoing IvIg treatment.

A second day is planned for 2011.

Year(s) Of Engagement Activity

2010

Description

Leading Edge

Form Of Engagement Activity

Participation in an open day or visit at my research institution

Part Of Official Scheme?

No

Geographic Reach

Local

Primary Audience

Schools

Results and Impact

Visits by groups of school children to our research laboratories as part of the 'Leading Edge' initiative to help students grasp basic scientific techniques and provide an insight into our research activities.

About 50 patients and carers attended a series of talks outlining the various activities ongoing in Newcastle. This was followed by tours of the labs and a chance to meet various members of the team.

Feedback from patients, carers and fundraisers indicated that the day was well-received with many participants gaining substantial useful information.

Year(s) Of Engagement Activity

2013

Description

Mitochondrial Patient Days

Form Of Engagement Activity

Participation in an open day or visit at my research institution

Part Of Official Scheme?

No

Geographic Reach

National

Primary Audience

Participants in your research and patient groups

Results and Impact

The centre for neuromuscular diseases held the first mitochondrial patient education and information day on the 15th November 2008 at Queen Square. Mitochondrial patients and their families came from across the UK to hear about different aspects mitochondrial disease including diagnosis, treatment and care. Members of the entire multidisciplinary mitochondrial NCG team at Queen Square were on hand to answer questions and explain the diagnostic process, care and treatment through practical demonstrations and posters. Patients also had the important opportunity to meet other families who were affected by mitochondrial disease. The second mitochondrial patient organisation day took place on 25th November 2009. The University of Newcastle has also held two mitochondrial patient organisation days in 4th July 2009 and on 24th June 2010.

A third mitochondrial patient day is planned for 2011.

Year(s) Of Engagement Activity

2008,2009,2010,2011,2012

Description

Modification of Splicing as a Therapeutic strategy for neuromuscular disorders.

Form Of Engagement Activity

A talk or presentation

Part Of Official Scheme?

No

Geographic Reach

International

Primary Audience

Professional Practitioners

Results and Impact

International Experimental Medicine Conference. NIHR Biomedical Research Centre at UCLH and Institute of neurology, London 13th October 2015. International Experimental Medicine Conference at which Francesco Muntoni lectured on Modification of splicing as a therapeutic strategy for neuromuscular disorders

The last Conference was in Southampton, 15th July 2012. The next Conference will be in Oxford, 21st July 2013. We are usually asked to give an update about IBM research. We also participate in "open discussion sessions" with patients.

Our research group is regularly invited to attend the Myositis Support Group Annual Meeting & Conference. The "open discussion sessions" are particularly appreciated by patients.

Over 100 patients, families and their carers attended an all day meeting in October 2016. There were talks from professional practitioners, information stands and engagement activities as well as patient focus groups. There was also an informal evening event which offered patients and their families and carers an opportunity to interact with other people affected by mitochondrial disease.

The aim of these meetings is to inform patient organisations about the activities of the centre, and ensure that they can work with the centre to achieve our goal of treating neuromuscular disease.

The area leads give updates on education, imaging, the Biobank, animal models and clinical neuromuscular trials across the UK, followed by the opportunity for questions and discussion. Representatives from over ten patient organisations attended the meetings.

Two patient organisations have part-funded one non-clinical three-year PhD studentship each as a result of these meetings (one CMT project, and one IBM project).

Year(s) Of Engagement Activity

2008,2010,2011,2012

Description

Radio interview on the use of animal models

Form Of Engagement Activity

A press release, press conference or response to a media enquiry/interview

Part Of Official Scheme?

No

Type Of Presentation

Keynote/Invited Speaker

Geographic Reach

National

Primary Audience

Public/other audiences

Results and Impact

Radio interview on the use of animal models. National outreach, television news audience.

.

Year(s) Of Engagement Activity

2013

Description

Sci-Talk Writers and Scientists Collaboration

Form Of Engagement Activity

A formal working group, expert panel or dialogue

Part Of Official Scheme?

No

Type Of Presentation

Keynote/Invited Speaker

Geographic Reach

Regional

Primary Audience

Other academic audiences (collaborators, peers etc.)

Results and Impact

Several meetings between a group of artists/writers and members of the research team to explore potential collaborative efforts aimed at producing materials (books, videos and artwork) to engage younger audiences in science.

Active collaboration between individuals resulting in a grant application to the Wellcome Trust for humanities funding. The grant was well-received, but did not get funded.

there were approx.. 400 - 500 attendees. Our task as a group is to give an overview of the topic each has agreed to discuss where research has been, where it is going, and the potential impact for treatment of the pediatric population.

Year(s) Of Engagement Activity

2015

Description

Work Experience Placements for Year 12 Students

Form Of Engagement Activity

Participation in an open day or visit at my research institution

Part Of Official Scheme?

No

Type Of Presentation

Workshop Facilitator

Geographic Reach

Local

Primary Audience

Schools

Results and Impact

Three year 12 students, including one with a comparatively mild muscle disease, observed a series of experiments in the lab for a week.

The students felt informed and expressed improved enthusiasm for biomedical science

Year(s) Of Engagement Activity

2013

Description

Young Science Writers Contest

Form Of Engagement Activity

Participation in an activity, workshop or similar

Part Of Official Scheme?

No

Type Of Presentation

Workshop Facilitator

Geographic Reach

Local

Primary Audience

Schools

Results and Impact

Over 150 pupils from local schools submitted short stories to the competition. The winners and runners up were invited to a formal prize-giving and they and their families invited to tour the labs.

The students engaged effectively with the task and many felt that their interest in science had increased.